Version 5.4
Homo sapiens Gene: LEPRE1
Summary
InnateDB Gene IDBG-97252.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LEPRE1
Gene Name leucine proline-enriched proteoglycan (leprecan) 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000117385
Encoded Proteins
IDBP-97254
leucine proline-enriched proteoglycan (leprecan) 1
IDBP-97256
leucine proline-enriched proteoglycan (leprecan) 1
IDBP-97258
leucine proline-enriched proteoglycan (leprecan) 1
IDBP-236177
leucine proline-enriched proteoglycan (leprecan) 1
IDBP-381784
leucine proline-enriched proteoglycan (leprecan) 1
IDBP-381785
leucine proline-enriched proteoglycan (leprecan) 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:42746335-42767084
Strand Reverse strand
Band p34.2
Transcripts
ENST00000296388 ENSP00000296388
ENST00000236040 ENSP00000236040
ENST00000372526 ENSP00000361604
ENST00000397054 ENSP00000380245
ENST00000431412 ENSP00000408056
ENST00000447502 ENSP00000394294
ENST00000460031
ENST00000495874
ENST00000462474
ENST00000472802
ENST00000460831
ENST00000481465
ENST00000463465
ENST00000492956
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 51 experimentally validated interaction(s) in this database.
Experimentally validated
Total 51 [view]
Protein-Protein 51 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005506 iron ion binding
GO:0005518 collagen binding
GO:0016491 oxidoreductase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016706 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors
GO:0019797 procollagen-proline 3-dioxygenase activity
GO:0031418 L-ascorbic acid binding
GO:0032403 protein complex binding
Biological Process
GO:0006457 protein folding
GO:0008285 negative regulation of cell proliferation
GO:0016049 cell growth
GO:0018126 protein hydroxylation
GO:0019511 peptidyl-proline hydroxylation
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030278 regulation of ossification
GO:0032963 collagen metabolic process
GO:0050708 regulation of protein secretion
GO:0050821 protein stabilization
GO:0055114 oxidation-reduction process
GO:0060348 bone development
GO:0061077 chaperone-mediated protein folding
GO:1901874 negative regulation of post-translational protein modification
Cellular Component
GO:0005578 proteinaceous extracellular matrix
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0016020 membrane
GO:0032991 macromolecular complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000028641
View Gene Order
ENSBTAG00000017382
Not yet available
Pathways
NETPATH
REACTOME
REACT_121139
Collagen biosynthesis and modifying enzymes pathway
REACT_118779
Extracellular matrix organization pathway
REACT_120729
Collagen formation pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.720014
RefSeq NM_001146289 NM_001243246 NM_022356 XM_005271110
HUGO
OMIM
CCDS CCDS472 CCDS53307 CCDS57986
HPRD 11227
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca